de Silva D - Search Results

1

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.

Miedzybrodzka Z, Hattersley AT, Ellard S, Pearson D, de Silva D, Harvey R, Haites N. Miedzybrodzka Z, et al. Among authors: de silva d. Eur J Hum Genet. 1999 Sep;7(6):729-32. doi: 10.1038/sj.ejhg.5200358. Eur J Hum Genet. 1999. PMID: 10482964

2

A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.

Kidd A, Carson L, Gregory DW, de Silva D, Holmes J, Dean JC, Haites N. Kidd A, et al. Among authors: de silva d. J Med Genet. 1996 Jun;33(6):493-7. doi: 10.1136/jmg.33.6.493. J Med Genet. 1996. PMID: 8782050 Free PMC article.

3

Ascertainment of familial ovarian cancer in the Aberdeen Genetic Clinic.

Gregory H, Schofield A, de Silva D, Semper J, Milner B, Allan L, Haites N. Gregory H, et al. Among authors: de silva d. J Med Genet. 1996 Mar;33(3):187-92. doi: 10.1136/jmg.33.3.187. J Med Genet. 1996. PMID: 8728689 Free PMC article.

4

Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme (NHSBSP).

de Silva D, Gilbert F, Needham G, Deans H, Turnpenny P, Haites N. de Silva D, et al. J Med Genet. 1995 Nov;32(11):862-6. doi: 10.1136/jmg.32.11.862. J Med Genet. 1995. PMID: 8592328 Free PMC article.

5

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.

de Silva DC, Wright MF, Stevenson DA, Clark C, Gray ES, Holmes JD, Dean JC, Haites NE, Dunlop MG. de Silva DC, et al. Cancer. 1996 Mar 1;77(5):972-6. Cancer. 1996. PMID: 8608492

6

Mulvihill-Smith progeria-like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities.

de Silva DC, Wheatley DN, Herriot R, Brown T, Stevenson DA, Helms P, Dean JC. de Silva DC, et al. Am J Med Genet. 1997 Mar 3;69(1):56-64. doi: 10.1002/(sici)1096-8628(19970303)69:1<56::aid-ajmg11>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9066884 Review.

7

Genome sequencing in families with congenital limb malformations.

Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M. Elsner J, et al. Among authors: de silva dc. Hum Genet. 2021 Aug;140(8):1229-1239. doi: 10.1007/s00439-021-02295-y. Epub 2021 Jun 22. Hum Genet. 2021. PMID: 34159400 Free PMC article.

8

Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.

De Silva D, Duffty P, Booth P, Auchterlonie I, Morrison N, Dean JC. De Silva D, et al. Clin Dysmorphol. 1995 Oct;4(4):294-303. doi: 10.1097/00019605-199510000-00004. Clin Dysmorphol. 1995. PMID: 8574419

9

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium; Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS. Fenwick AL, et al. Among authors: de silva d. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374770 Free PMC article.

10

Tuberous sclerosis--an unusual cause of seizures in an 18 year old.

de Silva DC, Johnston AW, Dean JC. de Silva DC, et al. Scott Med J. 1994 Feb;39(1):19-20. doi: 10.1177/003693309403900106. Scott Med J. 1994. PMID: 8720752

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

638 results

Search Page

Filters